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Okoljski in genetski dejavniki hipomaturacijske razvojne okvare sklenine prvih stalnih kočnikov in sekalcev
Hočevar, Luka (Avtor), Pavlič, Alenka (Mentor) Več o mentorju... Povezava se odpre v novem oknu

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Izvleček
Namen dela: Bolezen MIH je posebna entiteta z značilno klinično sliko razvojno okvarjene sklenine PSK in pogosto tudi stalnih sekalcev. Tovrstne razvojne okvare sklenine so lahko prisotne tudi na drugih zobeh, vključno z DMK. Namen raziskave je bil ugotoviti, ali kateri izmed številnih proučevanih dejavnikov okolja in/ali genetskih dejavnikov oz. genetskih različic vpliva na razvoj bolezni MIH. V literaturi je opisana vrsta različnih dejavnikov okolja, katerih prisotnost v obdobju izgrajevanja kron PSK in stalnih sekalcev naj bi vplivala na razvoj bolezni MIH, kot tudi morebiten vpliv določenih genetskih dejavnikov. Kljub številnim raziskavam vzrok razvoja bolezni MIH še vedno ni jasen. Nadalje nas je zanimalo, ali je mineralizacija sklenine DMK pri bolnikih z boleznijo MIH slabša kot pri preiskovancih brez znakov bolezni MIH ter ali je obolevnost za kariesom med preiskovanci z boleznijo MIH večja v primerjavi s preiskovanci brez znakov bolezni MIH. Hipoteze: (1) Bolezen MIH se razvije pod vplivom delovanja nekaterih dejavnikov okolja. (2) Na razvoj bolezni MIH vpliva tudi genetska predispozicija oz. prisotnost genetskih različic v genu za enamelin (ENAM). (3) Mineralizacija krone drugih mlečnih kočnikov je pri bolnikih z boleznijo MIH slabša kot pri preiskovancih brez bolezni MIH. (4) Pri preiskovancih z boleznijo MIH pričakujemo večjo obolevnost za kariesom kot pri preiskovancih brez bolezni MIH. Metode in preiskovanci: Vsem 113 preiskovancem (rojeni leta 2004 in v zgodnjem otroštvu operirani na Kliniki za otorinolaringologijo in cervikofacialno kirurgijo Univerzitetnega kliničnega centra Ljubljana) smo pregledali zobe po enotnem protokolu in pod standardnimi pogoji. Skladno s priporočili smo beležili na zobeh razpoznane bolezenske znake bolezni MIH in karioznih sprememb. Podatke o potencialnih okoljskih dejavnikih, ki bi lahko vplivali na razvoj bolezni MIH, smo pridobili z vprašalniki o zdravju in iz medicinske dokumentacije preiskovancev na Kliniki za otorinolaringologijo in cervikofacialno kirurgijo Univerzitetnega kliničnega centra Ljubljana. V izolirani DNA, izolirani iz vzorca periferne krvi preiskovanca, smo potrjevali prisotnosti haplotipov HLA DQ2 in HLA DQ8 in SNP gena ENAM (rs3796704), gena TTLL12 (rs13058467) in genov, ki interagirajo z genom ENAM (AMBN: rs546778141, AMTN: rs7660807, AMTN: rs35286445, COL14A1: rs4870723, MMP20: rs2245803 in TUFT1: rs3828054). Genotipizacijo smo izvedli z uporabo sond TaqMan, analizo talilnih krivulj DNA v visoki ločljivosti ter s sekvenciranjem po Sangerju. Preiskovance smo razdelili v dve skupini; v prvi so bili tisti z znaki bolezni MIH, v drugi pa preiskovanci brez znakov bolezni MIH. Za ugotavljanje statistično značilnih razlik med skupinama smo uporabili univariatno logistično regresijo ali test razmerja obetov. Razlike v številu s kariesom prizadetih ploskev zob smo preverjali z Mann-Whitneyevim U testom, medtem ko smo potencialno povezavo med prisotnostjo preiskovanih polimorfizmov in boleznijo MIH preverjali s testom Cochran-Armitage ter Fisherjevim eksaktnim testom. Razliko smo kot statistično značilno obravnavali pri p < 0,05. Uporabili smo programska paketa SPSS Windows 24.0 (IBM Corp., Armonk, NY, ZDA) in GraphPad Prism različice 8 (GraphPad Software, San Diego, CA, ZDA). Rezultati: Med proučevanimi dejavniki okolja nismo potrdili statistično značilne povezave z razvojem bolezni MIH. Proučevanje genetske predispozicije pa kaže na statistično značilno povezavo med homozigotno prisotnostjo SNP rs2245803 v genu MMP20 in razvojem bolezni MIH. Prisotnost genetskih različic v genu ENAM ni imela značilnega vpliva na razvoj bolezni MIH. Razlik v mineralizaciji kron DMK pri preiskovancih z znaki bolezni MIH in tistih brez znakov bolezni MIH zaradi premajhnega števila fiziološko izpadlih zob ni bilo mogoče proučiti. Smo pa potrdili večjo obolevnost za kariesom preiskovancev z znaki bolezni MIH v primerjavi s preiskovanci brez znakov te bolezni. Zaključek: Danes še vedno ni znano, kateri so okoljski in/ali genetski dejavniki, ki vplivajo na razvoj bolezni MIH. Najverjetneje se bolezen MIH razvije kot posledica sočasnega oz. sinergističnega učinka več okoljskih in genetskih dejavnikov.

Jezik:Slovenski jezik
Ključne besede:razvojne okvare sklenine, hipomineralizacija prvih stalnih kočnikov in sekalcev, etiologija, gen ENAM, polimorfizem posameznega nukleotida, matriksna metaloproteinaza 20, karies
Vrsta gradiva:Doktorsko delo/naloga (mb31)
Organizacija:MF - Medicinska fakulteta
Leto izida:2021
Število ogledov:94
Število prenosov:35
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
 
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Sekundarni jezik

Jezik:Angleški jezik
Naslov:Environmental and genetic factors of hypomatured developmental defects of enamel of first permanent molars and incisors
Izvleček:
Aim: MIH is a special entity with a characteristic clinical appearance of developmentally defective enamel of the FPM and often also of the permanent incisors. Such developmental enamel defects may also be present on other teeth, including the SDM. The aim of the study was to determine whether any of the studied environmental and/or genetic factors or genetic variants affect the development of MIH. The literature describes a number of different environmental factors that are present during the formation of FPM and permanent incisors, which supposedly influence the development of MIH. In addition, there is also a probability of certain genetic factors influencing the development of MIH. Despite numerous research the etiology of MIH remains unclear. Furthermore, I was interested in whether the mineralisation of the enamel of SDM is worse in patients with MIH compared to subjects without MIH, and whether there is a higher prevalence of caries among subjects with MIH compared to subjects without MIH. Hypotheses: (1) MIH develops under the influence of certain environmental factors. (2) The development of MIH is also influenced by a genetic predisposition or the presence of genetic variants in the enamelin gene (ENAM). (3) Mineralisation of the SDM crown is worse in patients with MIH compared to subjects without MIH. (4) A higher prevalence of caries is expected in subjects with MIH compared to subjects without MIH. Methods and subjects: The teeth of all 113 subjects (born in 2004, who underwent surgical treatment in early childhood at the Clinic of Otorhinolaryngology and Cervicofacial Surgery, University Medical Center Ljubljana) were examined according to an established protocol under standardized conditions. In accordance with the recommendations, a MIH clinical data recording sheet and caries detection criteria were used. Data on potential environmental factors that could affect the development of MIH were obtained through questionnaires and from the medical records of subjects at the Clinic for Otorhinolaryngology and Cervicofacial Surgery, University Medical Center Ljubljana. In the DNA, isolated from a sample of the subject's peripheral blood, I determined the presence of HLA DQ2 and HLA DQ8 haplotypes and SNP in the ENAM gene (rs3796704), in the TTLL12 gene (rs13058467) and in the genes that interact with the ENAM gene (AMBN: rs546778141, AMTN: rs7660807, AMTN: rs35286445, COL14A1: rs4870723, MMP20: rs2245803 and TUFT1: rs3828054). Genotypes were determined using TaqMan genotyping assays, high-resolution melting analysis, and Sanger sequencing. Subjects were divided into two groups; the first group contained subjects showing signs of MIH, and the second group subjects without any signs of MIH. Univariate logistic regression or the odds ratio test was used to determine statistically significant differences between the groups. The difference in the number of caries affected tooth surfaces between the groups was tested using the Mann-Whitney U test, while the potential correlation between the presence of investigated polymorphisms and MIH was tested using the Cochran-Armitage test and the Fisher exact test. P-values of 0.05 or less were considered statistically significant. Data were statistically analyzed using SPSS 24.0 (IBM Corp., Armonk, NY, USA) and GraphPad Prism version 8 (GraphPad Software, San Diego, CA, USA). Results: Among the studied environmental factors, I did not confirm a statistically significant correlation with the development of MIH. However, the study of genetic predispositions suggests a statistically significant correlation between the presence of SNP rs2245803 in its homozygous form in the MMP20 gene and the development of MIH. The presence of genetic variants in the ENAM gene did not have a significant effect on the development of MIH. Differences in the mineralisation of the SDM crowns in subjects with MIH and those without MIH could not be confirmed due to an insufficient number of physiologically exfoliated teeth. However, I confirmed a higher prevalence of caries in subjects with MIH compared to subjects without MIH. Conclusion: To date, the environmental and/or genetic factors that influence the development of MIH remain unknown. MIH most likely develops as a result of a simultaneous or synergistic effect of several environmental and genetic factors.

Ključne besede:developmental defects of enamel, hypomineralisation of the first permanent molars and incisors, etiology, ENAM gene, single nucleotide polymorphism, matrix metalloproteinase 20, caries

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